The ability to understand the genetic code has yielded advances in countless areas. From the ability to diagnose disease to the ability to identify evolutionary connections and/or diversity, to the ability to manipulate the genetic framework in the development of new materials and compositions, this understanding has opened doors to advances that have benefited and will continue to benefit biomedical research.
Integral to these advances have been developments in technology directed to the reading and/or characterization of the genetic code. For example, development of nucleic acid sequencing technologies has allowed for the base by base identification of the nucleic acid sequences that make up the genetic code to the point that entire human genomes have been elucidated. Other advances include rapid array based technologies that allow reasonably facile identification of genetic patterns from patients or other biological samples.
One area of development in the analysis of the genetic code is the ability to assess the variety of modifications that can occur in nucleic acids. Such modifications include chemical modifications, variations in nucleic acid conformation or composition, interactions of an agent with a nucleic acid (e.g., bound to the nucleic acid), and other perturbations associated with the nucleic acid.
One challenge in assessing modifications of nucleic acids, particularly genomic DNA, is that many technologies rely on amplified samples for assessment of nucleic acids. However, many nucleic acid modifications (including, for example, methylation) are not retained through the amplification process. The inability to retain these modifications in amplified samples can further contribute to the difficulty of identifying the portions of a nucleic acid sample that contain modifications and separating those nucleic acids from those that do not contain such modifications.